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Aliases for JUP Gene

Aliases for JUP Gene

  • Junction Plakoglobin 2 3 5
  • Catenin (Cadherin-Associated Protein), Gamma 80kDa 2 3
  • Desmoplakin III 3 4
  • Desmoplakin-3 3 4
  • CTNNG 3 4
  • DP3 3 4
  • Catenin Gamma 4
  • ARVD12 3
  • DPIII 3
  • PDGB 3
  • PKGB 3

External Ids for JUP Gene

Previous HGNC Symbols for JUP Gene

  • CTNNG

Previous GeneCards Identifiers for JUP Gene

  • GC17M039465
  • GC17M041960
  • GC17M039820
  • GC17M040284
  • GC17M037164
  • GC17M039910
  • GC17M035672
  • GC17M039776

Summaries for JUP Gene

Entrez Gene Summary for JUP Gene

  • This gene encodes a major cytoplasmic protein which is the only known constituent common to submembranous plaques of both desmosomes and intermediate junctions. This protein forms distinct complexes with cadherins and desmosomal cadherins and is a member of the catenin family since it contains a distinct repeating amino acid motif called the armadillo repeat. Mutation in this gene has been associated with Naxos disease. Alternative splicing occurs in this gene; however, not all transcripts have been fully described. [provided by RefSeq, Jul 2008]

GeneCards Summary for JUP Gene

JUP (Junction Plakoglobin) is a Protein Coding gene. Diseases associated with JUP include Naxos Disease and Arrhythmogenic Right Ventricular Dysplasia 12. Among its related pathways are Pathways in cancer and Signaling by GPCR. GO annotations related to this gene include protein homodimerization activity and protein kinase binding. An important paralog of this gene is CTNNB1.

UniProtKB/Swiss-Prot for JUP Gene

  • Common junctional plaque protein. The membrane-associated plaques are architectural elements in an important strategic position to influence the arrangement and function of both the cytoskeleton and the cells within the tissue. The presence of plakoglobin in both the desmosomes and in the intermediate junctions suggests that it plays a central role in the structure and function of submembranous plaques. Acts as a substrate for VE-PTP and is required by it to stimulate VE-cadherin function in endothelial cells. Can replace beta-catenin in E-cadherin/catenin adhesion complexes which are proposed to couple cadherins to the actin cytoskeleton (By similarity).

Gene Wiki entry for JUP Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for JUP Gene

Genomics for JUP Gene

Regulatory Elements for JUP Gene

Enhancers for JUP Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around JUP on UCSC Golden Path with GeneCards custom track

Promoters for JUP Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

Genomic Location for JUP Gene

Chromosome:
17
Start:
41,754,604 bp from pter
End:
41,786,931 bp from pter
Size:
32,328 bases
Orientation:
Minus strand

Genomic View for JUP Gene

Genes around JUP on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
JUP Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for JUP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for JUP Gene

Proteins for JUP Gene

  • Protein details for JUP Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P14923-PLAK_HUMAN
    Recommended name:
    Junction plakoglobin
    Protein Accession:
    P14923
    Secondary Accessions:
    • Q15093
    • Q15151
    • Q7L3S5
    • Q86W21
    • Q9BWC4
    • Q9HCX9

    Protein attributes for JUP Gene

    Size:
    745 amino acids
    Molecular mass:
    81745 Da
    Quaternary structure:
    • Homodimer. Component of an E-cadherin/catenin adhesion complex composed of at least E-cadherin/CDH1 and gamma-catenin/JUP, and possibly alpha-catenin/CTNNA1; the complex is located to adherens junctions. The stable association of CTNNA1 is controversial as CTNNA1 was shown not to bind to F-actin when assembled in the complex. Interacts with MUC1. Interacts with CAV1 (By similarity). Interacts with PTPRJ. Interacts with DSG1. Interacts with DSC1 and DSC2. Interacts with PKP2.
    SequenceCaution:
    • Sequence=AAH00441.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for JUP Gene

neXtProt entry for JUP Gene

Post-translational modifications for JUP Gene

No data available for DME Specific Peptides for JUP Gene

Domains & Families for JUP Gene

Gene Families for JUP Gene

Protein Domains for JUP Gene

Suggested Antigen Peptide Sequences for JUP Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P14923

UniProtKB/Swiss-Prot:

PLAK_HUMAN :
  • The entire ARM repeats region mediates binding to CDH1/E-cadherin. The N-terminus and first three ARM repeats are sufficient for binding to DSG1. The N-terminus and first ARM repeat are sufficient for association with CTNNA1. DSC1 association requires both ends of the ARM repeat region.
  • Belongs to the beta-catenin family.
  • Contains 12 ARM repeats.
Domain:
  • The entire ARM repeats region mediates binding to CDH1/E-cadherin. The N-terminus and first three ARM repeats are sufficient for binding to DSG1. The N-terminus and first ARM repeat are sufficient for association with CTNNA1. DSC1 association requires both ends of the ARM repeat region.
Family:
  • Belongs to the beta-catenin family.
Similarity:
  • Contains 12 ARM repeats.
genes like me logo Genes that share domains with JUP: view

Function for JUP Gene

Molecular function for JUP Gene

UniProtKB/Swiss-Prot Function:
Common junctional plaque protein. The membrane-associated plaques are architectural elements in an important strategic position to influence the arrangement and function of both the cytoskeleton and the cells within the tissue. The presence of plakoglobin in both the desmosomes and in the intermediate junctions suggests that it plays a central role in the structure and function of submembranous plaques. Acts as a substrate for VE-PTP and is required by it to stimulate VE-cadherin function in endothelial cells. Can replace beta-catenin in E-cadherin/catenin adhesion complexes which are proposed to couple cadherins to the actin cytoskeleton (By similarity).

Gene Ontology (GO) - Molecular Function for JUP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003713 transcription coactivator activity IDA 14661054
GO:0004871 signal transducer activity IEA --
GO:0005198 structural molecule activity IEA,NAS 22889254
GO:0005199 structural constituent of cell wall IC 7650039
GO:0005515 protein binding IEA,IPI 7890674
genes like me logo Genes that share ontologies with JUP: view
genes like me logo Genes that share phenotypes with JUP: view

Human Phenotype Ontology for JUP Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for JUP Gene

MGI Knock Outs for JUP:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for JUP

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for JUP Gene

Localization for JUP Gene

Subcellular locations from UniProtKB/Swiss-Prot for JUP Gene

Cell junction, adherens junction. Cell junction, desmosome. Cytoplasm, cytoskeleton. Membrane; Peripheral membrane protein. Note=Cytoplasmic in a soluble and membrane-associated form.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for JUP Gene COMPARTMENTS Subcellular localization image for JUP gene
Compartment Confidence
cytosol 5
extracellular 5
nucleus 5
plasma membrane 5
cytoskeleton 4

Gene Ontology (GO) - Cellular Components for JUP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IMP 14661054
GO:0005737 cytoplasm IEA,IMP 14661054
GO:0005829 cytosol IEA,ISS --
GO:0005856 cytoskeleton ISS --
GO:0005882 intermediate filament IEA --
genes like me logo Genes that share ontologies with JUP: view

Pathways & Interactions for JUP Gene

genes like me logo Genes that share pathways with JUP: view

Gene Ontology (GO) - Biological Process for JUP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002159 desmosome assembly IMP 20859650
GO:0007016 cytoskeletal anchoring at plasma membrane NAS 22889254
GO:0007155 cell adhesion IEA --
GO:0007165 signal transduction IEA --
GO:0016337 single organismal cell-cell adhesion IEA,IMP 20859650
genes like me logo Genes that share ontologies with JUP: view

No data available for SIGNOR curated interactions for JUP Gene

Drugs & Compounds for JUP Gene

(11) Drugs for JUP Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(9) Additional Compounds for JUP Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with JUP: view

Transcripts for JUP Gene

Unigene Clusters for JUP Gene

Junction plakoglobin:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for JUP

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for JUP Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d · 2e · 2f ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b · 8c · 8d ^ 9a · 9b · 9c ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^
SP1: - - - - - - - -
SP2: - - - - - - - - - - - -
SP3:
SP4: - - - - - - - - - - - - -
SP5: -
SP6: - - - - - - -
SP7: - - - - - - - -
SP8: - - - - - - -
SP9: - - - - -
SP10: - -
SP11: - - - - - -
SP12: - - -
SP13: - - - - - - -

ExUns: 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^ 19 ^ 20 ^ 21
SP1: -
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:

Relevant External Links for JUP Gene

GeneLoc Exon Structure for
JUP
ECgene alternative splicing isoforms for
JUP

Expression for JUP Gene

mRNA expression in normal human tissues for JUP Gene

mRNA differential expression in normal tissues according to GTEx for JUP Gene

This gene is overexpressed in Esophagus - Mucosa (x8.9), Skin - Sun Exposed (Lower leg) (x8.6), and Skin - Not Sun Exposed (Suprapubic) (x7.6).

Protein differential expression in normal tissues from HIPED for JUP Gene

This gene is overexpressed in Saliva (11.4), Heart (6.9), and Esophagus (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for JUP Gene



Protein tissue co-expression partners for JUP Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of JUP Gene:

JUP

SOURCE GeneReport for Unigene cluster for JUP Gene:

Hs.514174
genes like me logo Genes that share expression patterns with JUP: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for JUP Gene

Orthologs for JUP Gene

This gene was present in the common ancestor of animals.

Orthologs for JUP Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia JUP 34
  • 92.84 (n)
  • 98.26 (a)
JUP 35
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia JUP 34
  • 91.76 (n)
  • 99.06 (a)
JUP 35
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Jup 34
  • 89.62 (n)
  • 98.39 (a)
Jup 16
Jup 35
  • 98 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia JUP 34
  • 99.42 (n)
  • 99.71 (a)
JUP 35
  • 97 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Jup 34
  • 89.98 (n)
  • 97.99 (a)
oppossum
(Monodelphis domestica)
Mammalia JUP 35
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 78 (a)
OneToMany
-- 35
  • 81 (a)
OneToMany
-- 35
  • 86 (a)
OneToMany
chicken
(Gallus gallus)
Aves JUP 34
  • 85.2 (n)
  • 90.28 (a)
JUP 35
  • 90 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia JUP 35
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia jup 34
  • 75.82 (n)
  • 82.74 (a)
MGC75867 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.2844 34
zebrafish
(Danio rerio)
Actinopterygii LOC100330886 34
  • 72.01 (n)
  • 75.18 (a)
jupa 35
  • 70 (a)
OneToMany
jupb 35
  • 71 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9217 34
fruit fly
(Drosophila melanogaster)
Insecta arm 36
  • 65 (a)
worm
(Caenorhabditis elegans)
Secernentea bar-1 36
  • 25 (a)
hmp-2 36
  • 34 (a)
bar-1 35
  • 19 (a)
OneToMany
hmp-2 35
  • 31 (a)
OneToMany
Species where no ortholog for JUP was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for JUP Gene

ENSEMBL:
Gene Tree for JUP (if available)
TreeFam:
Gene Tree for JUP (if available)

Paralogs for JUP Gene

Paralogs for JUP Gene

genes like me logo Genes that share paralogs with JUP: view

Variants for JUP Gene

Sequence variations from dbSNP and Humsavar for JUP Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs1126821 - 41,755,893(-) CAGAC(A/T)TGGAT reference, missense
rs570878629 Arrhythmogenic right ventricular dysplasia, familial, 12 (ARVD12) 41,771,799(+) TGTAT(A/G)TCTGC reference, missense
rs41283425 - 41,769,461(+) GGGCG(C/T)GAGTG reference, missense
rs143043662 - 41,757,519(+) CAGGA(C/T)GGCAG reference, missense
rs1801501 -- 41,754,744(-) TTCAG(A/C)CCCCC utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for JUP Gene

Variant ID Type Subtype PubMed ID
dgv3174n100 CNV gain 25217958
nsv1060502 CNV gain 25217958
nsv1146669 OTHER inversion 26484159
nsv575041 CNV gain 21841781

Variation tolerance for JUP Gene

Residual Variation Intolerance Score: 26.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.20; 61.96% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for JUP Gene

Human Gene Mutation Database (HGMD)
JUP
SNPedia medical, phenotypic, and genealogical associations of SNPs for
JUP

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for JUP Gene

Disorders for JUP Gene

MalaCards: The human disease database

(24) MalaCards diseases for JUP Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
naxos disease
  • mal de naxos
arrhythmogenic right ventricular dysplasia 12
  • arrhythmogenic right ventricular dysplasia, familial, 12
epidermolysis bullosa, lethal acantholytic
  • ebla
familial isolated arrhythmogenic ventricular dysplasia, right dominant form
  • familial isolated arrhythmogenic ventricular cardiomyopathy, classic form
familial isolated arrhythmogenic ventricular dysplasia, biventricular form
  • familial isolated arrhythmogenic ventricular cardiomyopathy, biventricular form
- elite association - COSMIC cancer census association via MalaCards
Search JUP in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PLAK_HUMAN
  • Arrhythmogenic right ventricular dysplasia, familial, 12 (ARVD12) [MIM:611528]: A congenital heart disease characterized by infiltration of adipose and fibrous tissue into the right ventricle and loss of myocardial cells, resulting in ventricular and supraventricular arrhythmias. {ECO:0000269 PubMed:17924338, ECO:0000269 PubMed:20031617}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Naxos disease (NXD) [MIM:601214]: An autosomal recessive disorder characterized by the association of diffuse non-epidermolytic palmoplantar keratoderma with woolly hair and cardiac abnormalities such as dilated cardiomyopathy and arrhythmogenic right ventricular dysplasia. {ECO:0000269 PubMed:10902626}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for JUP

Genetic Association Database (GAD)
JUP
Human Genome Epidemiology (HuGE) Navigator
JUP
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
JUP
genes like me logo Genes that share disorders with JUP: view

No data available for Genatlas for JUP Gene

Publications for JUP Gene

  1. Comprehensive desmosome mutation analysis in North Americans with arrhythmogenic right ventricular dysplasia/cardiomyopathy. (PMID: 20031617) den Haan A.D. … Judge D.P. (Circ. Cardiovasc. Genet. 2009) 3 4 46 65
  2. A novel dominant mutation in plakoglobin causes arrhythmogenic right ventricular cardiomyopathy. (PMID: 17924338) Asimaki A. … McKenna W.J. (Am. J. Hum. Genet. 2007) 3 4 22 65
  3. Plakoglobin is O-glycosylated close to the N-terminal destruction box. (PMID: 12847106) Hatsell S. … Cowin P. (J. Biol. Chem. 2003) 3 4 22 65
  4. Tyrosine phosphorylation of plakoglobin causes contrary effects on its association with desmosomes and adherens junction components and modulates beta-catenin-mediated transcription. (PMID: 14517306) Miravet S. … Garcia de Herreros A. (Mol. Cell. Biol. 2003) 3 4 22 65
  5. Chromosomal assignment of the human genes coding for the major proteins of the desmosome junction, desmoglein DGI (DSG), desmocollins DGII/III (DSC), desmoplakins DPI/II (DSP), and plakoglobin DPIII (JUP). (PMID: 1889810) Arnemann J. … Buxton R.S. (Genomics 1991) 2 3 22 65

Products for JUP Gene

Sources for JUP Gene

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